ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA154754
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009102.3:p.Ala641Val
NM_007171.3:c.1922C>T